Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1479-7364
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings ; volume:14 ; number:1 ; day:29 ; month:6 ; year:2020 ; pages:1-7 ; date:12.2020
Human genomics ; 14, Heft 1 (29.6.2020), 1-7, 12.2020
- Creator
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Wang, Xiang
Zhang, Zhu
Zhang, Xueguang
Shen, Ying
Liu, Hongqian
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s40246-020-00274-4
- URN
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urn:nbn:de:101:1-2020082421180569650069
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:54 AM CEST
Data provider
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Associated
- Wang, Xiang
- Zhang, Zhu
- Zhang, Xueguang
- Shen, Ying
- Liu, Hongqian
- SpringerLink (Online service)
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